CRISPR/Cas9 mediated recombination deleted 112 nucleotides in exon 1. Immunoblot analysis of cerebellar lysates from homozygous mice confirmed the absence of full length wild-type protein. (J:275832)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count